FOR IMMEDIATE RELEASE
Contact: Jo Kaur, jo.kaur@riaanresearch.org
NYC Child Becomes First Patient Treated With Gene Therapy for Cockayne Syndrome
(June 9, 2026) — Riaan Research Initiative (RRI), a rare disease patient advocacy organization based in New York City, announced that 6-year-old Riaan Singh Digeorge, a Queens resident, has become the first patient to receive an experimental gene therapy for Cockayne syndrome, a devastating genetic disorder that causes premature aging and early death. Riaan received the treatment at NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York on April 21, 2026, via a neurosurgical procedure performed by surgeon-in-chief Dr. Mark Souweidane.
This groundbreaking milestone reflects the critical role of parent-led efforts to develop treatments for pediatric rare diseases when traditional pathways remain limited. It is the product of an intense, nearly five-year effort by Riaan’s parents, Jo Kaur and Richard Digeorge, who founded RRI in June 2021 shortly after their son was diagnosed, and the dedication of the Cockayne syndrome community. The organization raised nearly $4 million, helped move the program from concept to clinic, and built partnerships with leading academic institutions, scientists, clinicians, and regulatory experts. RRI collaborated on and fully funded every step, including preclinical studies at UMass Chan Medical School, toxicology studies at Charles River Laboratories, GMP manufacturing at Andelyn Biosciences, Investigational New Drug (“IND”) – enabling studies, submission, and regulatory review, and finally the first-in-human clinical administration at NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York in collaboration with Weill Cornell Medicine.
“We are blown away by Riaan’s superhuman resilience and good nature. He was laughing and playing balloon volleyball in PICU the day after neurosurgery,” said Kaur, founder of RRI and Riaan’s mother. “It has been seven weeks since treatment, and while it obviously hasn’t been easy, Riaan’s smile and zest for life carry us all forward. Each day brings excitement and possibility.”
Cockayne syndrome is a severe DNA repair and transcription disorder with no FDA-approved treatments. It causes significant brain atrophy, growth failure, vision/hearing loss, developmental disabilities and early death. Children who are more severely impacted, like Riaan, have a life expectancy of 5 to 7 years. The disease is estimated to affect approximately 1-3 per one million people and is one of many ultra-rare conditions where urgent patient needs often remain unmet under conventional drug development models.
The novel gene therapy used an adeno-associated viral vector, AAV9, to deliver a functional copy of the ERCC8/CSA transgene directly to the brain. Following promising results in mice treated with the gene therapy, including a lifespan increase of 8.5-fold, the FDA cleared the IND application sponsored by UMass Chan. Miguel Sena-Esteves, PhD, associate professor of neurology and genetic & cellular medicine at UMass Chan Medical School and director of the Translational Institute for Molecular Therapeutics, served as sponsor representative.
“Richie and I never imagined that our parenting journey would lead us to become drug developers, and we are grateful for the scientists and clinicians who helped us bring this treatment to our son,” continued Kaur. “It was not easy knowing he would be the first child in the world to receive the gene therapy. We were full of dueling emotions. But for hope, we took that leap. For love, we accepted the challenge. We are hopeful to expand to other children who are also awaiting treatment.”
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For more information about Riaan Research Initiative or this experimental gene therapy, or to interview Riaan’s parents and/or the scientific researchers and clinicians directly involved with the project’s development, please email jo.kaur@riaanresearch.org.
RRI extends its deepest gratitude to its incredible team of scientific, clinical, legal, and regulatory partners who helped Riaan and the Cockayne syndrome community make history, including Miguel Sena-Esteves, PhD, Rita Batista, PhD, Dr. Terence R. Flotte, Dr. Eleonora D’Ambrosio, and Brooke Cooney from University of Massachusetts Chan Medical School; Dr. Zachary Grinspan, Clinical Principal Investigator, Dr. Mark Souweidane, Surgeon-in-Chief at NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York, and the Team for Interventional Genetics Evaluation and Treatment from Weill Cornell Medicine and NewYork-Presbyterian; Lauren Black, PhD and Charles River Laboratories, and AspireBio Consulting. Thank you to our manufacturer, Andelyn Biosciences.
We could not have done this without the generosity and counsel of our pro bono partners, including Blake Wilson, Esq. and Hogan Lovells; Tiffany Lucas and fellow regulatory advisors at ELIQUENT Life Sciences; and Dr. Brandon Michael Henry and the regulatory/CMC team at Aurelix Bio.
We also thank fellow rare disease parent advocates who have walked this path before us, Cockayne syndrome experts, and the global network of gene therapy scientists and clinicians who provided guidance throughout this process.
Last but not least, to our cherished patient community, fellow Cockayne syndrome patient advocacy groups, and to our donors whose love, fierce commitment, support, and advocacy continue to drive this work forward: thank you.
